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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pax3tm1(FOXO1A)Gcg
targeted mutation 1, Gerard C Grosveld
MGI:2388378
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Pax3tm1(FOXO1A)Gcg/Pax3+ either: (involves: 129X1/SvJ * C57BL/6) or (involves: 129X1/SvJ * NMRI) MGI:3804424


Genotype
MGI:3804424
ht1
Allelic
Composition
Pax3tm1(FOXO1A)Gcg/Pax3+
Genetic
Background
either: (involves: 129X1/SvJ * C57BL/6) or (involves: 129X1/SvJ * NMRI)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3tm1(FOXO1A)Gcg mutation (0 available); any Pax3 mutation (50 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 7 of 10 mice die at birth with uninflated lungs and the remaining die within hours of respiratory insufficiency

cardiovascular system
N
• unlike in other splotched mutants, mice exhibit normal outflow tract development
• dilated at E16.5
• the caval veins are overextended
• mice that live a few hours beyond birth exhibit a large opening in the right tricuspid valve
• mice exhibit either thickened or thinned interventricular septum
• VSDs occur in the wall overlying the muscular part of the septum, some of which were present at the position where the septum attaches to the interventricular groove
• at E16.5, the ventricular septum is thickened compared to in wild-type mice
• in mice that live a few hours beyond birth
• despite normal outflow tract, mice exhibit congestive heart failure indicated by a blood engorged liver

muscle
• mice exhibit abnormal diaphragm and tongue musculature
• however, limb musculature develops normally
• around the time of birth, tongue musculature is underdeveloped and disorganized
• around the time of birth, lateral tongue muscle exhibits a decrease in diameter compared to wild-type musculature
• however, tongue musculature is normal at E13.5
• at E16.5, the muscles of the diaphragm is underdeveloped with fibers being both shorter and thinner than in wild-type mice and possessing gaps in the musculature
• however, diaphragm musculature is normal at E13.5

nervous system
• caudal neural tube outgrowths are present in 10% of mice
• in 10% of mice
• in 10% of mice

respiratory system
• 7 of 10 mice exhibit compact alveoli indicating a failure to inflate
• in mice that live a few hours beyond birth

homeostasis/metabolism
• in mice that live a few hours beyond birth

hematopoietic system
• the right and left lobes exhibit an abnormal, more caudal location
• mutant thymus has an abnormal, more caudal location

neoplasm
N
• unlike in t(2;13) translocations that place FOXO1A under the control of the PAX3 promoter in humans, mice exhibit no signs of tumorigenesis

immune system
• the right and left lobes exhibit an abnormal, more caudal location
• mutant thymus has an abnormal, more caudal location

embryo
• caudal neural tube outgrowths are present in 10% of mice
• in 10% of mice

craniofacial
• around the time of birth, tongue musculature is underdeveloped and disorganized
• around the time of birth, lateral tongue muscle exhibits a decrease in diameter compared to wild-type musculature
• however, tongue musculature is normal at E13.5

digestive/alimentary system
• around the time of birth, tongue musculature is underdeveloped and disorganized
• around the time of birth, lateral tongue muscle exhibits a decrease in diameter compared to wild-type musculature
• however, tongue musculature is normal at E13.5

endocrine/exocrine glands
• the right and left lobes exhibit an abnormal, more caudal location
• mutant thymus has an abnormal, more caudal location

growth/size/body
• around the time of birth, tongue musculature is underdeveloped and disorganized
• around the time of birth, lateral tongue muscle exhibits a decrease in diameter compared to wild-type musculature
• however, tongue musculature is normal at E13.5





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory